Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02376:Hnrnpr'

291129

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Hnrnpr

Ensembl Gene

ENSMUSG00000066037

Gene Name

heterogeneous nuclear ribonucleoprotein R

Synonyms

hnRNPR, Hnrpr, 2610528B01Rik, 2610003J05Rik

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02376

Quality Score

Status

Chromosome

Chromosomal Location

136310942-136359447 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 136319455 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 149 (G149D)

Ref Sequence

ENSEMBL: ENSMUSP00000138399 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000084219] [ENSMUST00000105850] [ENSMUST00000125696] [ENSMUST00000131671] [ENSMUST00000134524] [ENSMUST00000145282] [ENSMUST00000148843] [ENSMUST00000156259]

AlphaFold

Q8VHM5

Predicted Effect

probably damaging
Transcript: ENSMUST00000084219
AA Change: G48D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000081239
Gene: ENSMUSG00000066037
AA Change: G48D

Domain	Start	End	E-Value	Type
RRM	166	240	1.27e-16	SMART
RRM	247	324	9.42e-11	SMART
RRM	342	407	3.76e-19	SMART
low complexity region	419	428	N/A	INTRINSIC
low complexity region	433	496	N/A	INTRINSIC
low complexity region	499	527	N/A	INTRINSIC
low complexity region	531	574	N/A	INTRINSIC
low complexity region	604	620	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000105850
AA Change: G149D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000101476
Gene: ENSMUSG00000066037
AA Change: G149D

Domain	Start	End	E-Value	Type
RRM	166	240	1.27e-16	SMART
RRM	247	324	9.42e-11	SMART
RRM	342	407	3.76e-19	SMART
low complexity region	419	428	N/A	INTRINSIC
low complexity region	433	496	N/A	INTRINSIC
low complexity region	499	527	N/A	INTRINSIC
low complexity region	531	574	N/A	INTRINSIC
low complexity region	604	620	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000125696
AA Change: G48D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000131671
AA Change: G48D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000138263
Gene: ENSMUSG00000066037
AA Change: G48D

Domain	Start	End	E-Value	Type
RRM	65	139	1.27e-16	SMART
RRM	146	223	9.42e-11	SMART
RRM	241	306	3.76e-19	SMART
low complexity region	318	327	N/A	INTRINSIC
low complexity region	332	395	N/A	INTRINSIC
low complexity region	398	426	N/A	INTRINSIC
low complexity region	430	473	N/A	INTRINSIC
low complexity region	503	519	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000134524
AA Change: G149D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000119666
Gene: ENSMUSG00000066037
AA Change: G149D

Domain	Start	End	E-Value	Type
RRM	166	240	1.27e-16	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000145282

Predicted Effect

probably damaging
Transcript: ENSMUST00000148843
AA Change: G149D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000138399
Gene: ENSMUSG00000066037
AA Change: G149D

Domain	Start	End	E-Value	Type
RRM	166	240	1.27e-16	SMART
RRM	247	324	9.42e-11	SMART
RRM	342	407	3.76e-19	SMART
low complexity region	419	428	N/A	INTRINSIC
low complexity region	433	496	N/A	INTRINSIC
low complexity region	499	527	N/A	INTRINSIC
low complexity region	531	574	N/A	INTRINSIC
low complexity region	604	620	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000156259

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an RNA-binding protein that is a member of the spliceosome C complex, which functions in pre-mRNA processing and transport. The encoded protein also promotes transcription at the c-fos gene. Alternative splicing results in multiple transcript variants. There are pseudogenes for this gene on chromosomes 4, 11, and 10. [provided by RefSeq, Jul 2014]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810043G02Rik	A	G	10: 77,984,554		probably benign	Het
2700081O15Rik	C	T	19: 7,422,376	P496L	probably damaging	Het
Abtb1	A	G	6: 88,838,484		probably benign	Het
Adcy3	G	A	12: 4,201,031	E597K	possibly damaging	Het
Adcy9	A	G	16: 4,418,680	V289A	probably benign	Het
Akr1d1	A	T	6: 37,530,285	D14V	probably damaging	Het
Ankrd12	T	C	17: 66,042,529		probably benign	Het
Arap3	T	C	18: 37,978,453	T1137A	possibly damaging	Het
Arhgef4	A	T	1: 34,806,059	Q77L	probably damaging	Het
Arhgef7	A	G	8: 11,817,735	T444A	probably damaging	Het
Arr3	A	C	X: 100,614,675	K281Q	probably damaging	Het
Arrdc2	A	T	8: 70,838,979	I114N	probably benign	Het
Atg2b	A	T	12: 105,645,468	F1217Y	probably damaging	Het
C1qtnf1	A	C	11: 118,448,068	Y188S	probably benign	Het
Cbx6	C	A	15: 79,828,299	R309L	probably benign	Het
Chrna9	T	C	5: 65,971,159	S237P	probably damaging	Het
Dapk1	G	A	13: 60,696,394	V76I	probably benign	Het
Elk4	T	A	1: 132,014,550	N53K	probably benign	Het
Epha7	A	C	4: 28,951,287	T799P	probably damaging	Het
Exosc2	G	A	2: 31,679,875	V233M	possibly damaging	Het
Fam217b	A	G	2: 178,417,573	D3G	probably benign	Het
Farp1	T	A	14: 121,272,856	N755K	probably damaging	Het
Fer	A	G	17: 63,934,346	E327G	possibly damaging	Het
Fmnl3	A	T	15: 99,318,963	F1017Y	possibly damaging	Het
Gabbr2	A	C	4: 46,684,300	I658S	probably damaging	Het
Gemin2	A	G	12: 59,021,720	D195G	probably benign	Het
Gtf3c1	T	A	7: 125,668,996	Y875F	probably benign	Het
Krt74	A	C	15: 101,754,503		noncoding transcript	Het
Ltf	A	G	9: 111,029,624	D480G	probably benign	Het
Map1b	A	G	13: 99,435,595	L206P	probably damaging	Het
Meis1	T	C	11: 18,881,752	M429V	probably benign	Het
Myh4	C	A	11: 67,245,728	T444N	probably benign	Het
Nckap1l	A	T	15: 103,471,231	Y315F	possibly damaging	Het
Ndst3	A	G	3: 123,556,798	I646T	probably damaging	Het
Ndufv1	T	C	19: 4,007,823		probably null	Het
Ogdhl	T	C	14: 32,343,318	Y710H	probably damaging	Het
Olfr1263	A	G	2: 90,015,460	I177V	probably benign	Het
Otud7b	A	G	3: 96,155,037	K531R	possibly damaging	Het
Pax3	T	C	1: 78,132,292	Y243C	probably damaging	Het
Pde1a	A	G	2: 79,875,223		probably benign	Het
Pik3cb	C	T	9: 99,052,352	M813I	probably benign	Het
Prss42	A	T	9: 110,803,107	D302V	possibly damaging	Het
Rad52	T	C	6: 119,915,230		probably benign	Het
Reln	A	T	5: 22,080,791	Y393*	probably null	Het
Rhbdd3	T	C	11: 5,103,192		probably benign	Het
Sbf2	C	T	7: 110,462,956	G138D	probably damaging	Het
Slco1a1	A	T	6: 141,924,334		probably null	Het
Smg9	A	G	7: 24,415,030	I265V	probably benign	Het
Sppl2b	G	T	10: 80,867,598	E565*	probably null	Het
Stx6	T	A	1: 155,201,979	V244D	probably benign	Het
Tle4	T	C	19: 14,594,404	N78D	probably damaging	Het
Tmcc3	A	G	10: 94,578,567	I44V	possibly damaging	Het
Tnnt3	C	T	7: 142,512,558	T220I	possibly damaging	Het
Ttn	A	T	2: 76,727,467	D29798E	possibly damaging	Het
Vtcn1	A	T	3: 100,892,665	M281L	probably benign	Het
Zfp595	T	C	13: 67,316,450	K586R	possibly damaging	Het

Other mutations in Hnrnpr

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00778:Hnrnpr	APN	4	136339545	missense	unknown
IGL00844:Hnrnpr	APN	4	136339205	missense	probably benign	0.17
IGL01374:Hnrnpr	APN	4	136327418	splice site	probably benign
IGL01704:Hnrnpr	APN	4	136329381	missense	possibly damaging	0.89
IGL01825:Hnrnpr	APN	4	136339539	nonsense	probably null
IGL01843:Hnrnpr	APN	4	136339413	splice site	probably benign
IGL01871:Hnrnpr	APN	4	136339574	missense	unknown
IGL02557:Hnrnpr	APN	4	136319506	missense	probably damaging	1.00
IGL02947:Hnrnpr	APN	4	136316379	missense	probably damaging	1.00
PIT4677001:Hnrnpr	UTSW	4	136329439	missense	probably damaging	1.00
R0142:Hnrnpr	UTSW	4	136327282	missense	probably damaging	1.00
R0219:Hnrnpr	UTSW	4	136339163	splice site	probably benign
R1459:Hnrnpr	UTSW	4	136329444	missense	probably damaging	1.00
R1917:Hnrnpr	UTSW	4	136332488	nonsense	probably null
R2007:Hnrnpr	UTSW	4	136319513	unclassified	probably benign
R2364:Hnrnpr	UTSW	4	136327329	missense	possibly damaging	0.69
R3788:Hnrnpr	UTSW	4	136336313	missense	probably damaging	1.00
R4066:Hnrnpr	UTSW	4	136339346	intron	probably benign
R4232:Hnrnpr	UTSW	4	136339189	missense	probably benign	0.15
R4433:Hnrnpr	UTSW	4	136317148	missense	probably benign	0.04
R4664:Hnrnpr	UTSW	4	136317175	unclassified	probably benign
R4990:Hnrnpr	UTSW	4	136329379	missense	probably damaging	1.00
R4990:Hnrnpr	UTSW	4	136336298	missense	probably damaging	1.00
R5058:Hnrnpr	UTSW	4	136336337	missense	possibly damaging	0.89
R5328:Hnrnpr	UTSW	4	136339216	missense	probably benign	0.01
R5469:Hnrnpr	UTSW	4	136319434	missense	probably damaging	1.00
R5641:Hnrnpr	UTSW	4	136332487	missense	probably damaging	0.97
R7067:Hnrnpr	UTSW	4	136327393	missense	probably damaging	1.00
R7250:Hnrnpr	UTSW	4	136332435	missense	probably benign	0.45
R7254:Hnrnpr	UTSW	4	136332575	missense	possibly damaging	0.92
R8213:Hnrnpr	UTSW	4	136317175	unclassified	probably benign
R8942:Hnrnpr	UTSW	4	136332480	missense	possibly damaging	0.95
R9008:Hnrnpr	UTSW	4	136329426	missense	probably damaging	0.97
R9502:Hnrnpr	UTSW	4	136329370	missense	probably damaging	0.99
R9515:Hnrnpr	UTSW	4	136336304	missense	probably damaging	1.00
R9516:Hnrnpr	UTSW	4	136336304	missense	probably damaging	1.00

Posted On

2015-04-16